ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.94G>C (p.Gly32Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004576619 SCV005058674 uncertain significance Birt-Hogg-Dube syndrome 1 2024-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004950804 SCV005581703 benign Hereditary cancer-predisposing syndrome 2024-07-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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